Latest news with #NORD
Newsweek
2 days ago
- Health
- Newsweek
Parents Welcome Baby Girl, 4 Months Later They Realize Something Is Wrong
Based on facts, either observed and verified firsthand by the reporter, or reported and verified from knowledgeable sources. The mother of a 6-year-old girl has shared the story of learning her daughter was born blind, and how far they have come together as a family. Skin specialist Hayley Steinbach, 30, lives in Essex in the U.K. with her builder husband, Zak, 31, and their three children, including daughter Elsie. She was diagnosed with optic nerve hypoplasia as a baby—but getting that initial diagnosis was far from easy. "The moment I realized Elsie, at 4 months old, wasn't tracking anything properly, I was so confused and concerned," Steinbach told Newsweek. "Our doctor had told me eight times that Elsie's eyes were OK, and it was just a blocked tear duct." Elsie is the couple's first child, and so the new parents were "unaware of how delayed her vision was—we thought it was normal eye behavior for a newborn." But when Steinbach realized her daughter wasn't able to give her any eye contact at all, she returned to the doctor and pleaded for help. This time, the doctor shared her concern, and asked her to step out of the room as he made an immediate hospital appointment for the baby girl. "As soon as I walked out, into the waiting room, I broke down and rang for my husband to come immediately as my legs went to jelly—I was so scared for Elsie," Steinbach said. "Five days later she was diagnosed with optic nerve hypoplasia. We had no idea what this condition was, and what this meant for our baby girl." Optic nerve hypoplasia is a congenital disorder where the optic nerves in the eye are underdeveloped. While the cause of ONH is not yet understood, it can lead to abnormal eye movements, and can lead to a person having no light perception at all, according to the National Organization for Rare Disorders (NORD). Left, Hayley Steinbach, Zak embrace Elsie on the day she was born; and, right, the baby aged 6 weeks. Left, Hayley Steinbach, Zak embrace Elsie on the day she was born; and, right, the baby aged 6 weeks. TikTok @elsieseyearmy Recalling those terrifying early days, Steinbach said: "My world went black and went quiet like when someone dies—I felt heartbroken and gut sick. I was terrified for Elsie, and I had no idea what was best for her. We were new to becoming parents, and now we were new to how to help someone who's blind. "I'd never even met a blind person before, never knew what Braille was. We were completely clueless, which made it so scary—and no one else around us could help us, no one around us knew what was best for Elsie or how any of us could help Elsie the best." The couple were "so worried and scared for her future"—but, together, the family got through it. Steinbach and Zak learned alongside Elsie as she navigated the world, including learning Braille, as they knew it would "now be a part of our life, and we would need to know it to be able to teach Elsie." As time went on, they learned that Elsie has "no vision in her right eye, and [in] her left eye, she has minimal vision, but she uses that vision to her fullest." "Elsie's eyesight has gone against what the consultants said and still say now; they are amazed at what she can do with the small amount of vision she does have," proud mom Steinbach said. She added that Elsie's optic nerves are the "same size in both eyes," so it is a "miracle" she has any sight in her left eye. Elsie now wears glasses to help her left eye with long-sightedness, and uses both Braille and size-72 text to read and work at school. And, close to seven years after that first terrifying diagnosis, her mom says Elsie has "made all my thoughts and worries go away." "There is nothing she's not able to do like a child her age, but she just does it in her own little way and is teaching us along the way. "Elsie is full of confidence and no fear; she does everything! I never imagined her life to be so 'normal'. Elsie is incredible and amazes us every single day; she is the happiest little girl you could meet." The little girl, described as "extremely confident," is now an older sister to Dolsie, 3, and 2-year-old Elvis, and has big plans for her life, as her mother said her daughter "wants to be a performer—acting, singing, dancing." Left, the family smile on a trip to Disney not long after Elsie's diagnosis, and right, the girl now, aged 6. Left, the family smile on a trip to Disney not long after Elsie's diagnosis, and right, the girl now, aged 6. TikTok @elsieseyearmy Steinbach shared Elsie's story to her TikTok account, @elsieseyearmy, where she wrote in a caption that she hopes it can "help families in [those] dark few months see that being blind won't stop your baby from doing anything." It had a major online reaction, racking up close to 3 million views and more than 92,000 likes, as commenters flocked to the video asking questions about Elsie and her journey, and some sharing their own experiences with ONH. A fellow parent wrote: "My little boy was thought to be completely blind for life but is now just completely blind in his left eye and has 6/38 vision in his right and gets on with life almost as a normal sighted child, I don't understand how but he's amazing." Another urged Elsie's parents to continue to "love her and encourage everything, be her biggest cheerleader," as a third posted: "What absolutely beautiful parents you are. She is utterly perfect in every way." And as one comment read: "Sweet Elsie! I wish you a life full of joy and happiness in the best form available! God Bless you!" Steinbach said: "I think mine and my husband's worries for Elsie will always be there; through every stage of Elsie's life, we will worry she will struggle and come up with more challenges. But, with Elsie's personality and determination, we know Elsie will not let anything affect her—it will affect us more as parents watching her." In a message to everyone learning about Elsie's story, Steinbach added: "Elsie is blind, despite the small bit of vision she does have. "Being blind does not mean seeing nothing; it means being severely sight-impaired, like Elsie is. Being blind does not stop Elsie from doing anything; she just does it in her own way."
Axios
27-05-2025
- Entertainment
- Axios
Greek Fest and more things to do in New Orleans
🇬🇷 New Orleans Greek Fest celebrates its 50th anniversary this weekend. It's Friday through Sunday on the grounds of the Holy Trinity Greek Orthodox Cathedral. Look for Greek food, dancing, music and shopping, along with cathedral tours. More info. 🪁 Learn to fly a kite at NORD's annual Kite & Drone Day at Milne Playground on Saturday. Details. 👙 Party at the pool. The Rib Room is having a free rooftop shindig on Saturday. Details. 🎤 Frankie Valli & the Four Seasons are at the Saenger on Saturday. Tickets. 🎉 Rave with Shrek at The Fillmore on Saturday night. Tickets. 🎶 " Billy vs. Elton," a tribute to Billy Joel and Elton John, is at the Jefferson Performing Arts Center on Sunday. Tickets.
Yahoo
14-05-2025
- Health
- Yahoo
Montana Establishes Rare Disease Advisory Council to Support Residents Living with Rare Conditions
NORD's Advocacy helps Montana become 32nd state to create a dedicated council HELENA, Mont., May 14, 2025 /PRNewswire/ -- The National Organization for Rare Disorders (NORD®) celebrates Montana Gov. Greg Gianforte's signing into law House Bill 943 to establish the state's Rare Disease Advisory Council (RDAC). The legislation creates a dedicated 17-member council that will provide guidance, education, and recommendations to help policymakers better serve Montanans living with rare diseases. This new law represents the 32nd RDAC established since NORD launched Project RDAC in November 2020, an initiative aimed at creating well-functioning RDACs in every state. The bill's swift passage — moving from introduction on March 31 to the governor's signature on May 13 — demonstrates Montana's commitment to addressing the needs of its rare disease community. "RDACs provide a crucial voice for patients in policy discussions. They are a foundational component in a larger ecosystem of state policies that must work together — from medical nutrition coverage, step therapy reform, and Medicaid eligibility expansions," said NORD Chief Executive Officer Pamela K. Gavin. "Montana's council will provide a structured pathway for patients' voices to reach policymakers, helping to address the heartache, isolation, and endless hurdles that can come with rare disease diagnoses." With this legislation, Montana joins states like Arizona, which just established its RDAC this week, and nearby states like Colorado and Utah in creating a formalized structure to address rare disease challenges at the state policy level. The council will conduct needs assessments, develop policy recommendations, and identify resources to improve patient access to specialists, affordable healthcare coverage, diagnostics, and timely treatments. "It was an honor to sponsor House Bill 943 in the recently completed session of the Montana Legislature" said Representative Paul Tuss of Havre, Mont., who was the chief sponsor of HB 943 and who lost both his mother and wife to amyotrophic lateral sclerosis (ALS). "HB 943 establishes the Montana Rare Disease Advisory Council, and for the first time ever will engage our state's rare disease community in a meaningful way to more fully understand their needs. It will also help determine how state government can play a positive role in helping our citizens with rare diseases, along with their families and caregivers." Montana's RDAC includes several features that set it apart from other states, such as including a representative from the state's public health laboratory in recognition of the critical role of newborn screening in early detection of rare diseases. The council also reserves seats specifically for rare disease patients and caregivers, ensuring those with firsthand experience have a place at the table. And unlike many states that established councils without initial funding, Montana backed its commitment with a $16,000 appropriation of state funding from day one, providing resources needed to make meaningful progress. NORD works with thousands of grassroots advocates across the United States to advance federal and state policies that benefit the more than 30 million Americans living with a rare disease, defined as any disease that impacts fewer than 200,000 people. This work includes close collaboration with numerous patient advocacy organizations, uniting the rare disease community's voice. "Today, we celebrate a big step forward for the rare disease community with the passage of Montana HB 943! This new legislation establishes the Montana Rare Disease Advisory Council, which will help in elevating the voice of patients with rare diseases. Thank you, Montana, for leading the way!" said Clark Hansen, Managing Director of Advocacy, ALS Association. Life with a rare disease poses many challenges for patients and their families. Getting an accurate diagnosis can take years for some rare disease patients, and even when a diagnosis is secured, only about 5% of the more than 10,000 known rare diseases have a Food and Drug Administration (FDA) approved treatment. Direct medical costs for those living with a rare disease have been shown to be three to five times higher than someone of similar age who does not have a rare disease. Individuals can get involved and support their state's rare disease community by joining NORD's Rare Action Network® and learning more about NORD's Project RDAC and Rare Disease Advisory Councils. About the National Organization for Rare Disorders With a 42-year history of advancing care, treatments, and policy, the National Organization for Rare Disorders (NORD®) is the leading and longest-standing patient advocacy group for the more than 30 million Americans living with a rare disease. A nonpartisan, independent 501(c)(3) nonprofit, NORD is dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 350 patient organization members, is committed to improving the health and well-being of people with rare diseases by driving advances in care, research, and policy. View original content to download multimedia: SOURCE National Organization for Rare Disorders (NORD®) Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
Yahoo
13-05-2025
- Health
- Yahoo
Arizona Becomes the 31st State With a Rare Disease Advisory Council
New State Council Will Help Shape Health Policies for Arizonans Living with Rare Diseases PHOENIX, May 13, 2025 /PRNewswire/ -- The National Organization for Rare Disorders (NORD®) celebrates a significant milestone for the rare disease community as Arizona Governor Katie Hobbs has signed House Bill 2380 into law, establishing the Arizona Rare Disease Advisory Council (RDAC). This legislation, introduced by Representative Alma Hernandez, supported by the National Organization for Rare Disorders (NORD®) and patient organizations from Arizona and across the United States, brings new hope to rare disease patients across the state by ensuring a dedicated body to address their unique healthcare needs. "The establishment of Arizona's Rare Disease Advisory Council represents the power of grassroots advocacy and community collaboration," said NORD Chief Executive Officer Pamela K. Gavin. "From passionate patients and dedicated clinicians to committed lawmakers, Arizonans came together with a unified voice to create meaningful change. NORD is immensely proud to have supported this community-driven initiative. This council will ensure that the unique challenges faced by rare disease patients and families in Arizona are not only heard but addressed through informed policy and dedicated action." "I am proud to have been able to work with the stakeholders and those living with rare diseases for the last two years to make this legislation possible," said Representative Alma Hernandez. "It is time for Arizona to move the needle and find ways to support this community. This committee will allow for new recommendations for lawmakers to better support this community. I look forward to the first convening and the ability to learn from the experts in this field, improve the lives of others, and develop better policies to diagnose and treat Arizonans living with a rare disease." With the governor's signature on May 12, Arizona becomes the 31st state with an RDAC. The council will include dedicated stakeholders from across the rare disease landscape, including physicians and other health care providers, patients, caregivers, researchers, and members of the pharmaceutical and insurance industries. The membership of the RDAC will reflect the unique geographical and population of Arizona. "As both a rare disease patient and a provider for children with medically complex and rare conditions, I'm excited to see Arizonans gain a stronger voice in future policy," said Melissa Meyer, DNP, a NORD volunteer. "My rare disease didn't happen to me — it happened for me. It gave me the empathy to better support my patients and the inspiration to teach future nurse practitioners how to advocate. I'm deeply grateful for this journey and hopeful about the impact the RDAC will have." Of the more than 10,000 known rare diseases, only approximately 5% have a Food and Drug Administration (FDA)-approved treatment. Diagnosis can take years for many rare disease patients, and their direct medical costs are three to five times higher than someone of similar age without a rare disease. This council will serve to educate lawmakers and state agencies about these challenges and provide recommendations for policies that benefit the more than 30 million Americans living with rare diseases, including approximately one in 10 Arizonans. The Arizona RDAC will work to improve patient access to specialists, affordable healthcare coverage, timely diagnostics, and necessary treatments through policy recommendations and public education initiatives. Individuals can get involved and support their state's rare disease community by joining NORD's Rare Action Network® and learning more about NORD's Project RDAC and Rare Disease Advisory Councils. About the National Organization for Rare Disorders With a 42-year history of advancing care, treatments, and policy, the National Organization for Rare Disorders (NORD®) is the leading and longest-standing patient advocacy group for the 30 million Americans living with a rare disease. A nonpartisan, independent 501(c)(3) nonprofit, NORD is dedicated to individuals with rare diseases and the organizations that serve them. NORD, along with its more than 350 patient organization members, is committed to improving the health and well-being of people with rare diseases by driving advances in care, research, and policy. View original content to download multimedia: SOURCE National Organization for Rare Disorders (NORD®) Sign in to access your portfolio
Axios
08-05-2025
- Business
- Axios
New Orleans gets 1st splash pad, new West Bank pool
All of New Orleans' public pools will be open for business this summer, the city's recreation department CEO says, though one will take a little bit longer than others. Why it matters: In a year that's already cooking, any way to cool off is going to offer a welcome relief in our hottest months. The latest: Top city officials celebrated the opening of the New Orleans Recreation Development Commission's 18th pool Monday. The George V. Rainey Natatorium at Algiers' Morris F.X. Jeff Sr. Park offers two firsts: the first indoor pool for New Orleans' West Bank, and the city's first public splash pad. What they're saying:"I grew up learning to swim in this pool" when it was still named Behrman Park, said Councilman Freddie King, whose district includes Algiers. "I remember coming to NORD summer camps in the mid-90s and ... I swear there were so many kids in here, the water would overflow." "That's how many children were here, and that's how much of a need for a pool there is." Zoom in: NORDC CEO Larry Barabino tells Axios New Orleans that 17 of the department's now 18 pools will be open by May 31. He's confident that lifeguard staffing, which has been a struggle in the past, won't be an issue this summer with funding in place again for 150 guards. "We have a huge influx of lifeguards coming in," Barabino says. "We're gonna be ready." Yes, but: NORDC's pool at A.L. Davis Park requires a major repair that, while also funded, will take extra time to complete. But "it will open this summer," Barabino says. What we're watching: Complaints have been rising that NORDC facilities aren't being well-maintained, which Barabino says is a result of post-Katrina underfunding. Barabino pointed to Saturday's election as an example, with Jefferson Parish voters approving a millage that'll contribute to a $35 million annual budget for its 70 or so facilities. In Orleans Parish, Barabino says, he has a budget of about $20 million to spend across 160 facilities. More recreation funding will have to come from the next mayoral administration, Barabino said, as well as from voters, who could approve a bond sale to that end in the election this fall. Go deeper
